Definition

Turner syndrome is a genetic disorder that includes a broad spectrum of features that vary in individuals, but usually have the common findings of short stature and loss of ovarian function. The loss of ovarian function usually leads to infertility and inhibited sexual development.

Causes

Turner syndrome only occurs in girls and women. Females normally have two X chromosomes. Turner syndrome is most commonly caused by a missing X chromosome. It is usually sporadic, meaning that it is not inherited from a parent. In rare cases, a parent silently carries rearranged chromosomes that can result in Turner syndrome in a daughter. This is the only situation in which Turner syndrome is inherited.

Risk Factors

There are no other known factors that increase the chance of Turner syndrome.

Symptoms

The main symptoms of this syndrome include:

Short stature—If the disorder is not treated, the average adult is about 4 feet 8 inches tall.

Lack of development of the ovaries—The ovaries are the organs that produce eggs for fertilization and female hormones. Most girls with Turner syndrome do not start puberty. Many do not have normal breast development or menstrual periods. Most cannot produce eggs and are infertile.

Osteoporosis
, which can lead to height loss, curved spine, and broken bones

Hearing and other ear problems

Impaired sense of visual coordination despite normal intelligence

Celiac disease

Increased risk for cancer

Diagnosis

Depending on its severity, Turner syndrome may first be diagnosed in infancy, childhood, or adolescence.

The doctor will ask about your symptoms and medical history. A physical exam will be done. A gynecologic exam may also be done.

Your bodily fluids may be tested. This can be done with blood tests.

Images may be taken of your reproductive organs. This can be done with ultrasound.

Treatment

There is no known cure for Turner syndrome. However, there are treatments for many of the associated problems. These include:

Growth Hormone

If given early enough in childhood, growth hormone can improve growth and increase final adult height by a few inches. However, not all children have a good response to growth hormone. Bone-lengthening surgery can increase the final height of children with Turner syndrome who have not responded adequately to growth hormone. However, this lengthy treatment requires multiple surgeries, long periods of disability, and many potential complications.

Estrogen Replacement Therapy

Estrogen replacement therapy induces the normal physical changes of adolescence, including breast growth and menstrual periods. Women with Turner syndrome usually take estrogen-progesterone treatment until at least menopause to protect their bones from osteoporosis.

Treatment for Other Medical Conditions

Other medical problems are carefully monitored and treated, including:

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